Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

Mungan N. O., Yildizdas D., KOR D., ÖZGÜR HOROZ Ö., İNCECİK F., Oktem M., ...Daha Fazla

METABOLIC BRAIN DISEASE, cilt.31, sa.5, ss.1181-1183, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s11011-016-9833-y
  • Dergi Adı: METABOLIC BRAIN DISEASE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1181-1183
  • Anahtar Kelimeler: Tyrosinemia type I, Neurologic crisis, Nitisone, Polyneuropathy
  • Gazi Üniversitesi Adresli: Hayır

Özet

Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione treatment the prognosis improved with reduced rate of complications. "Neurologic crisis" of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm. Here, we report a tyrosinemia type I patient who admitted to the hospital with nonspecific symptoms such as vomiting, anorexia, weakness, and restlessness only after one month discontinuation of nitisone and diagnosed as neurological crisis.